MFM Flashcards
clubbed feet on USS
CRITO
Talipes is a complex foot deformity where the foot is internally rotated at the ankle
It must be treated after birth to prevent long term deformity. The treatments are can be conservative with physiotherapy, splints and casts but surgery may be needed
in 30% of cases there associated other structural and genetic abnormalities.
There is a risk if recurrence in future pregnancies
Management
MFM referral
written information
support groups
Discussion
Detailed anatomy scan at a teritary centre to screen for other abnormalities.
Diagnostic genetic testing will be discussed after a full evaluation for other abnormalities. The risk of genetic abnormalities is low if the finding is isolated.
MOD as per routine obstetric indication
Paeds review at birth
future pregnancies offer genetic counselling and USS examination of fetal feet
Diagnostic testing
Chorionic villis sampling can be done from 11-13+6 Involves aspiration or biopsy of placental villi using either a transabdominal or a transcervical approach.
This has a 1-2% miscarriage risk and has a higher technical failure rate then amniocentesis.
Amniocentesis can be done from 15 weeks. It is a procedure done under local anaesthetic under USS guidance where a sample of the amniotic fluid is taken for genetic testing.
The maternal risks are discomfort, Chorioamnionitis
Haemorrhage uterine contractions Rh sensitisation
The fetal risk if miscarriage following amniocentesis is around 1%. Infection and ROM
Anti D must be given to Rh negative woman
Gastroschisis
Gastroschisis is a full thickness abdominal wall defect with bowel protruding through that is not covered by a membrane
Associated risks include perinatal mortality, IUGR, lengthy hospital stay, multiple surgical interventions sepsis, necrotising enterocolitis
It is not associated with chromosomal abnormalities
Management
Refer MFM
Written information + Support groups
MDT care with paeds / paeds surgical services
Fetal ECHO
Increased antenatal surveillance with regular growth USS with liquor and dopplers and Consider regular review +/- CTG monitoring
Deliver 37-38 weeks with CEFM
MOD as per obs indication
Paeds at birth
Birth in a unit with paeds surgical services
Bowel should be placed at birth into a sterile transparent bag carefully at delivery
Ventriculomegly
• Lateral cerebral ventricular measurement increased above the normal cut-off
Normal Values Normal <10mm Mild 10-11.9mm Moderate 12-14.9mm Severe 15mm+
Risks / Differential Diagnosis • Aneuploidy 5-15% • Infection • Syndromes • Abnormal Neuroanatomy • Cerebral haemorrhage
Management
Refer MFM
Written information
Support groups
Tertiary anatomy scan looking for other abnormality
Review obs/medical/exposure history
Take bloods to screen for toxoplasmosis, rubella, CMV HSV parvovirus
Anti platelet antibodies
Amniocentesis - karyotype and AFP
Prognosis depends on cause
Isolated Ventriculomegaly
• Mild, unilateral, male + normal 30 week scan:
• Studies suggest normal outcome
• Mild ventriculomegaly:
• 5% require extra assistance at school
• Moderate ventriculomegaly:
• 14% some degree of handicap
• Severe ventriculomegaly:
• 48% handicapped
A repeat USS at 30 weeks or an MRI may modify the prognosis.
Choroid plexus cyst
a choroid plexus cyst is a 5mm well circumscribed echolucent area within the choroid plexus of the lateral ventricle
Risk
This can be a normal variant but can be associated with T18 (30-50% of T18 have a choroid plexus cyst - most of there have other detectable structural abnormalities)
Plan
Refer MFM
Tertiary scan to assess for other abnormalities (careful assessment of hands)
If other structural abnormalities present offer amniocentesis
If no other abnormalities no other monitoring is needed
Hydrops
Hydrops fetalis is a clinical condition affecting the fetus where there is excessive fluid in 2 or more extra vascular compartments including pleural effusions, pericardial effusions, ascites, skin oedema, placental enlargement
It can be immune due to haemolytic anaemia from red cell alloimmunisation or non immune
The causes for non immune hydrops can be chromosomal, cardiovascular, hematological, infection, thorax, syndromic, lymphatic
In 30% of cases no cause is found. Some of these the cause if found after birth
If before 24 weeks a aneuploidy and parvovirus are the most common, after 24 weeks hydrothorax and tachyarrhythmias are more common
There is an associated high perinatal mortality rate depending on the underlying cause. If large pleural effusions are present then pulmonary hypoplasia can be significant
Maternal mirror syndrome can develop presented as nephrotic syndrome or preeclampsia.
Management
Refer MFM, written information, support groups
Assessment for causes
blood group and antibody screen
serology parvovirus, CMT Toxoplasmosis and coxsackievirus
Kleihaurer for maternal fetal haemorrhage
amniocentesis for karyotype, PCR for infections
fetal blood sampling if anaemia
management then depends on results
Delivery in a tertiary unit with paediatric support. Elective preterm delivery may be considered
polyhydramnios
Risks
Preterm birth, abruption, PPROM and cord prolapse
Sacral agenesis
abnormal fetal development of the sacrum
Risks of dysfunction depends on degree of agenesis, can have bladder and bowel dysfunction
Management Refer MFM Tertiary morphology review with USS Screen for / manage diabetes Depending on degree conservative vs TOP
Ancephaly
Absence of a part of the brain, skull and scalp
The risks is death (may survival hours to days)
may be due to a genetic disorder
Management refer to MFM Tertiary anatomy scan counselling Conservative management vs TOP High dose folic acid prepreg and in future pregnancies paeds at birth comfort cares
MCDA twins
Risks Fetal IUGR Congenital abnormalities Preterm delivery TTTS TAPS Selective IUGR Single fetal demise
Maternal Anaemia Gestational HTN PET AFLP PUPP Obstetric cholestasis Abruption Hyperemesis gravidarum VTE PPH
Management Antenatal Folic acid and iodine Iron supplementation Healthy diet and exercise Obstetric-led care Regular AN clinic visits for BP, proteinuria etc Healthy weight gain: Dating USS between 10-12+6/40 Screening for Downs syndrome Combined risk assessment for both twins vs NIPT If abnormal- both twins need amniocentesis (risk of miscarriage 1 in 100=100 0.5/100+0.5/100) Raised nuchal: chromosomal, early TTTS, abnormality Expectant Mx Diagnostic testing Pregnancy termination Selective termination (cord occlusion) Tertiary anatomy scan at 18-20 weeks
Increased risk placenta praevia, vasa praevia, growth restriction
Fortnightly USS from 16/40: biometry, BP, presence/absence bladder and stomach filling, UA doppler, MCA PSV from 24/40
OGTT
Refer MFM if:
High risk T1 screening or anomaly on anatomy scan
Amniotic fluid discrepancy
Growth discordancy of >20 EFW
Refer urgently if possible diagnosis of TTTS
Delivery 36-37/40
Mode of birth depends on the leading twin- planned LSCS does not decrease or increase fetal/neonatal death or morbidity as compared to planned vaginal delivery
Intrapartum IV access Early epidural Continuous CTG monitoring both twins Inform anaesthetist and paediatrician
In room:
USS
Oxytocin 10IU in 500ml NaCl 0.9% (infusion to start for second twin)
Oxytocin 40IU in 1000mls (for PPH)
Obstetrician 2x resuscitaires Ensure leading twin cephalic- if not then LSCS Deliver 1st twin Do not give ecbolic 2nd twin: Check lie If transverse: ECV to correct to longitudinal, if fails then internal podalic version and breech extraction ARM when presenting part in pelvis Aim for SVB
Active 3rd stage
Postpartum Thromoboprophylaxis Lactation support Postnatal depression Contraception
Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
Definition
Diaphragmatic defect where abdominal contents herniate into the chest
Risks/DDx
Disturbed lung development during embryonic period
Lung hypoplasia
Chronic lung disease
Persistent pulmonary HTN
GORD
Feeding problems
Thoracic deformations
Management
Refer MFM
MDT counselling: MFM specialist, neonatologist, neonatal surgeon, geneticist, paeds
Amnio and karytype if isolated, microarray if multiple abnormalities
Conservative Mx or TOP based on counselling etc
Prognostic factors: liver herniation, fetal lung volume, side of lesion, lung area to head circumference
Fortnightly scan for fetal growth and polyhydramnios
Consider delivery by 40/40
Mode of delivery for standard obstetric indications
Refer to genetic counsellor post partum for genetic work up and recurrence risk
Lethal Skeletal Dysplasia
Definition: abnormal formation and remodelling of bone resulting in diffuse skeletal deformity, bone shortening, abnormal bone shape, density and number of bones
Lethality is based on pulmonary hypoplasia from a restrictive thorax
Risks/DDx
Thantophoric dysplasia
Achondrogenesis
Osteogenesis imperfecta type 2
Severe early IUGR
Aneuploidy
Management
Refer MFM
Detailed tertiary USS examining the bones and for features of pulmonary hypoplasia
Consider amniocentesis (or testing post-natally): karyotype, hypophosphatasia, single-gene disorders (use of array or directed testing guided by genetics)
Consultation with radiologist, geneticist, neonatologist, fetal medicine panel
Conservative Mx- ongoing USS surveillance
TOP/fetal death: advise post-mortem evaluation and ensure full body skeletal survey done, consider post-mortem CT, karyotype/DNA studies
Post-delivery: paediatric and genetic assessment
Short humerus/femur
Definition: measurement <2.5 centile for gestational age or less than 0.91 of that predicted by measured BPD
Risks/DDx
Isolated (variant of normal or early onset FGR)
Non isolated
Skeletal dysplasia
Aneuploidy- T21, T18, T13, triploidy
Genetic syndromes
Multiple structural abnormalities
Management
Refer MFM
Tertiary anatomy scan assessing for other structural abnormalities, bilateral UA Dopplers
Offer counselling with consideration of advanced screening (NIPT or amnio) if high adjusted risk, other structural abnormality, other indicators of aneuploidy, wishing definitive testing
Continue USS surveillance and F/U USS for PET, IUGR, late presentation of skeletal dysplasia
Genetics referral if skeletal dysplasia suspected
Umbilical Vein Varix
Definition: focal dilation of the umbilical vein of the fetus, just after entering the abdomen
Risks/DDx
Associated with structural abnormalities and aneuploidy
Associated with increased risk of fetal death before labour
Risk of thrombus formation in the varix
Management
Refer MFM
Detailed anatomy scan
Amnio to be considered after anatomy scan (?other markers of aneuploidy on USS)
1-2 weekly CTGs
Weekly USS of fetal wellbeing and fortnightly growth USS from 32/40
IOL at 39-40 weeks
Hypoplastic L heart
Definition: hypoplastic L heart Risks Associated aneuploidy IUGR CNS abnormalities
Management
Refer MFM
Tertiary anatomy scan looking for other abnormalities and defining the lesion
MDT input: fetal panel, paediatric cardiologist, neonatologist, obstetrics
Continue vs TOP
Growth surveillance in pregnancy
Delivery in a tertiary centre experienced with cardiac disorders
Prostaglandin infusion at birth for baby to keep the duct open
Atrial septostomy in first week of birth
Omphalocoele
Definition: midline defect in the anterior abdominal wall causing herniation of the abdominal contents into a membranous sac
Risks/DDx
Gastroschisis
Bladder exstrophy
Body stalk abnormality
Urachal abnormality
70% are associated with other malformations, chormosomal abnormalities or genetic syndromes
IUGR
Polyhydramnios
Stillbirth
Lung hypoplasia with large omphalocoele
Management
MFM referral
Tertiary anatomy scan looking for other malformations (particularly cardiac)
Amniocentesis assessing karyotype
Counselling after MDT assessment- MFM, paediatric surgery, geneticist
Options: Conservative or TOP
Ongoing surveillance 2 weekly given risks of IUGR, polyhydramnios and demise
Birth in a centre with a paediatric surgeon and NICU
Mode of birth dependent on size of omphalocoele- if giant then birth via LSCS to decrease risk of damage to viscera
Wrap the omphalocoele to avoid heat loss, consider early intubation, insert a NG tube and peripheral IV cannula
Tracheo-oesophageal fistula/oesophageal atresia
Definition: oesophageal atresia is an interruption of the oesophagus (no connection from the pharynx to stomach) and 90% have a TOF where the distal oesophagus is connected to the trachea
Risks
50% have associated abnormalities (skeletal or cardiac most common)
Syndromes (Feingold/VATER/CHARGE)
Aneuploidy
Management
Refer MFM
Tertiary scan for other abnormalities (USS findings of OA are polyhydramnios and absent stomach)
Amnio for karyotype to be considered
Counselling- MFM, neonatology, paediatric cardiologist, paediatric surgeon
Continue or TOP
Regular USS for growth/LV
Inform woman to present if signs of labour/ROM etc
Delivery in hospital with paediatric surgery
Attempt to insert a large orogastric tube at birth to confirm fistula
Surgery on day 1-2 of life
Cystic hygroma
Definition: congenital malformation of the lymphatic system
Risks/DDx
Fetal demise
DDx: cervical meningocoele, posterior encephalocoele, cystic teratoma, haemangioma
50-70% have chromosomal abnormalities (Down, Turner, Kleinfelter, Edwards, Patau)
30% have other abnormalities
Management
Refer MFM
Tertiary anatomy scan looking for other abnormalities
Fetal ECHO at 18-22 weeks
Amniocentesis
MRI if airway compromise suspected
Conservative Mx vs TOP
Counselling by MFM, neonatology, paeds surgery
Birth in a tertiary hospital with NICU/paeds surg
USS just prior to birth to assess size of lesion and associated hydrops, pleural effusions etc
Birth by LSCS if large, consider use of EXIT procedure if obstructing airway
Postnatal surgical resection of the lesion
Holoprosencephaly
Definition: failure of the forebrain to develop into two hemispheres
Risks/DDx
IUFD
Spectrum of mild (no facial/organ defects, anosmia, or only a single central incisor) to severe
Alobar holoprosencephaly- severe facial anomalies including lack of a nose and eyes merged to a single median structure
Semi-lobar- some division of hemispheres
Lobar- more brain separation, less severe
Syntelencephaly- posterior frontal lobe and parietal lobe not properly separated
Agenesis of the corpus callosum
Facial abnormalities
Seizures
Mental retardation
Likely due to genetic defect (can also occur with GDM, infections, previous miscarriage)
Mx
Refer MFM
Tertiary anatomy scan to confirm
Conservative Mx vs TOP
Counselling: MFM, paeds, genetic counsellor, paeds rehab, neurologist
Paeds at birth
Cleft lip/palate
Definition: facial clefts resulting from relative tissue defects along linear anatomical planes
Risks/DDx
DDx: normal philtrum, amniotic bands, facial mass (teratoma, encephalocole, haemangioma), holoprosencephaly, T13/18, syndromes
Management
Refer MFM
Tertiary anatomy scan to exclude associated abnormalities
Amniocentesis (20-50% aneuploidy risk depending on cleft palate)
Conservative vs TOP
Counselling/MDT with paeds, ENT, dentist, plastic surgeon, SW, psychiatrist, genetic counsellor
Mode of birth for routine obstetric indications
Surgical repair at 2-3 months
Fetal dyskinesia (arthrogryposis multiplex congenital)
Definition: symptom complex of multiple joint contractures present at birth, with multiple causes that limit fetal movements
Risks/DDx
Neurogenic (most common)
Myogenic eg muscular dystrophies
Connective tissue eg restrictive dermopathy
Limited space (multiple pregnancy)
Intrauterine abnormalities eg amniotic bands, fibroids, oligohydramnios
Maternal illness (myasthenia gravis, rubella)
Toxins (FAS, mediations)
Compromised vascular supply (maternal hypotension/hypoxia, placental insufficiency)
Reduced movements can cause:
Polyhydramnios due to impaired swallowing
Restriction of lung growth and pulmonary hypoplasia
Associated abnormalities:
Short umbilical cord
IUGR
Osteoporosis
Craniofacial abnormalities (micrognathia, cleft lip/palate, maxillary hypoplasia)
Management
Refer MFM
Detailed USS assessment to elicit the underlying aetiology and determine consequences
Counselling after review by MFM, paeds neurology, paeds rehab, genetics
Conservative Mx vs TOP
Regular growth USS
Birth in a hospital with NICU available, paeds at delivery
Postnatal Mx depends on the severity of the baby’s condition (palliative vs active)
Renal disease
Types
Bilateral renal agenesis: not compatible with life
Unilateral renal agenesis: USS urinary tract, otherwise not a problem
Duplex kidney: may be associated with vesicourerteric reflux
Dysplastic kidneys: usually areas of abnormality that are usually asymptomatic unless severe bilateral disease
Multicystic dysplastic kidney: kidney has no function as no excretory function and attached to an atretic or absent ureter, VUR likely in the contralateral kidney
Ectopic kidney: usually in the pelvis, associated with dysplasia and VUR
Horseshoe kidney: association with Turner’s syndrome and long-term problems (calculi, UTIs, tumours)
Obstructive uropathy: males spectrum of disorders/urethral atresia, females indictates complex urogenital malformation
Risks
35% have other abnormalities (heart, spine, extremities)
Pulmonary hypoplasia if oligo/anhydramnios a possibility
Management
Refer MFM if abnormality severe/persistent (following detection of antenatal renal dilatation around 50% of postnatal scans will be normal)
Tertiary anatomy scan to review anatomy
Counselling after fetal medicine panel
Consider testing for syndromes/aneuploidy
Monitor for oligohydramnios/anhydramnios during pregnancy
Consider vesicoamniotic shunting (although does carry high morbidity)
If pulmonary hypoplasia is suspected then birth in a tertiary unit with NICU etc
Vasa praevia
DDx
Type 1: velamentous cord insertion
Type 2: succinturiate or accessory lobe
Cord presentation
Management
Routine AN care
MDT input- obstetricians, radiologists, midwives
Confirm on TA/TV USS with colour doppler at the anatomy scan (highly accurate)
Growth USS if velamentous cord
Confirm persistence in the third trimester
Consider hospitalisation from 30-32 weeks
Steroids from 32 weeks
If PPROM or bleeding–> category 1 LSCS
Delivery between 34-36 weeks via elective LSCS prior to the onset of labour
Document, debrief, DVT prophylaxis, discuss breastfeeding and contraception, anti-D and PN depression
Echogenic bowel
Definition
Fetal bowel with homogenous areas of echogenicity equal to or greater than surrounding bone
Risks/DDx
If isolated then 90% no other abnormity
risk of abnormality at birth that was prev undetected
Up to 30% have an underlying pathology
Fetal aneuploidy (usually 21, but 13,18 and sex chromosomes)
Cystic fibrosis
Intra-amniotic bleeding (swallowing of blood)
Congenital bowel malformations
IUGR
Congenital infection (CMV, toxo)
Management
Refer MFM
Detailed tertiary USS to review growth, anatomy, placenta, markers for aneuploidy and infection
Fetal genetic assessment- Amniocentesis vs NIPT
Maternal virology screen: CMV/toxo
Parental CF carrier status
Monthly growth USS (increased risk of IUGR and stillbirth)
+ve bad antibodies
Bad antibodies for baby Kell (bad any level) Duffy (Fya) (bad > 1.32) Anti-c (bad at low levels) Anti-c + E (bad at low levels) Anti-E/e (bad >1:32) Anti-D (bad >1:16)
Pre-pregnancy counselling and advise of the risk of hydrops
Identify at booking with first AN bloods or at 26-28/40
Obstetric led care
NIPT to identify if the fetus is at risk if maternal antigens are present (fetal blood group/antigens) or paternal blood group (especially useful for Rh status and Kell, others less so)
Consider CVS or amnio to determine fetal blood type if anaemia or other concerns such as structural abnormaligies
Refer MFM, urgent if: anti-c, anti-D, anti-K, rising titres (>2x), above threshold, or suggestion of fetal anaemia, previous infant affected by HDN
Check titres every 4 weeks until 28 weeks and then every 2 weeks until delivery
For the at risk fetus or titres rising above the levels above, start weekly MCA PSVs and plot these on a chart
Fortnightly growth USS and plot on customised and population growth charts
Consider invasive treatment if >1.5MoM- intrauterine transfusion
RBC for blood transfusion should be O or ABO identical and negative for the antigen and CMV and irradiated
Liase with blood bank to discuss and plan transfusion requirement, if high risk for bleeding then weekly cross-match
Timing and mode of birth will depend on fetal anaemia, titres etc but birth at 37/40
At birth: cord bloods and cord gases, RBCs if needed, consider risk of jaundice
SVT
A sustained bradyarrhythmia or tachyarrhythmia can lead to congestive heart failure, hydrops, fetal demise, and the possibility of neurologic morbidity
Tachyarrhythmias
Two most common types of tachyarrhythmias
Fetal Arrhythmia: November 2015
SVT or Atrial flutter
Differential Diagnosis • Infection – maternal or fetal • Hypoxia • Fetal anaemia • Maternal drugs • Maternal thyrotoxicosis • Maternal cathecholamines
Important History
• Maternal drugs
• Autoimmune conditions
• History of CHD
Investigation
• Maternal vitals
• Maternal TFT’s +/- thyroid antibodies
• Urinary cathecholamines if suspicion of maternal Cushing’s Disease
• Ultrasound
• MCA Doppler
• M-mode or pulsed wave for waveform assessment (as above)
Tachyarryhthmia • > 90% survival with correct choice of medication with SVT and Flutter • Most infants have meds stopped in 1st year of life Factors associated with worse prognosis • Hydrops • Associated abnormalities esp. CHD • Metabolic derangements • Inappropriate med choice
General options for treatment are: 1. Observe 2. Deliver then treat 3. Transplacental fetal therapy (maternal ECG, electrolytes and drug levels as part of process) 4. Direct fetal therapy SVT - flecanide / sotalol
